SCN1A c.730G>T ;(p.V244L)

Variant ID: 2-166908463-C-A

NM_001165963.1(SCN1A):c.730G>T;(p.V244L)

This variant was identified in 4 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Concise Review: Stem Cell Models of SCN1A-Related Encephalopathies-Current Perspective and Future Therapies.

Cells
Zayat, Valery V; Szlendak, Roza R; Hoffman-Zacharska, Dorota D
Publication Date: 2022-10-04

Variant appearance in text: Nav1.1: Val244Leu
PubMed Link: 36231081
Variant Present in the following documents:
  • Main text
View BVdb publication page


Genetic Analysis of Sodium Channel Genes in Pediatric Epilepsy Patients of Pakistan.

Genetics Research
Ashfaq, Aqsa A; Saleem, Tayyaba T; Sheikh, Nadeem N; Maqbool, Hafsa H
Publication Date: 2022

Variant appearance in text: SCN1A: 730G>T
PubMed Link: 35136380
Variant Present in the following documents:
  • GR2022-1168703.pdf
View BVdb publication page


Genetic Analysis of Sodium Channel Genes in Pediatric Epilepsy Patients of Pakistan.

Genetics Research
Ashfaq, Aqsa A; Saleem, Tayyaba T; Sheikh, Nadeem N; Maqbool, Hafsa H
Publication Date: 2022

Variant appearance in text: SCN1A: 730G>T
PubMed Link: 35136380
Variant Present in the following documents:
  • GR2022-1168703.pdf
View BVdb publication page


Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Frontiers In Pharmacology
Menezes, Luis Felipe Santos LFS; Sabiá Júnior, Elias Ferreira EF; Tibery, Diogo Vieira DV; Carneiro, Lilian Dos Anjos LDA; Schwartz, Elisabeth Ferroni EF
Publication Date: 2020

Variant appearance in text: SCN1A: V244L
PubMed Link: 33013363
Variant Present in the following documents:
  • Main text
View BVdb publication page


Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Frontiers In Neurology
Gonsales, Marina C MC; Montenegro, Maria Augusta MA; Preto, Paula P; Guerreiro, Marilisa M MM; Coan, Ana Carolina AC; Quast, Monica Paiva MP; Carvalho, Benilton S BS; Lopes-Cendes, Iscia I
Publication Date: 2019

Variant appearance in text: SCN1A: 730G>T; V244L
PubMed Link: 31001185
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page